The CFTR-France database has retrieved 39 DUPLICATIONS, which are displayed below:
#Exon/intron | Name | Legacy name | Classe |
---|---|---|---|
Exon 1 | c.25dup | disease-causing | |
Exon 1 | c.49_50dup | disease-causing | |
Intron 1 | c.54-4235_164+377dup4723 | disease-causing | |
Exon 3 | c.175dup | 306insA | disease-causing |
Exon 3 | c.233dup | 359insT ; 360-365insT ; 365-366insT (W79fs) | disease-causing |
Exon 4 | c.413_415dup | L138ins | disease-causing |
Exon 5 | c.531dup | disease-causing | |
Exon 6 | c.586dup | disease-causing | |
Exon 8 | c.1008_1019dup | 1151ins12 | disease-causing |
Exon 9 | c.1130dup | disease-causing | |
Exon 10 | c.1248dup | N417X | disease-causing |
Intron 11 | c.1584+53_1584+63dup | VUS | |
Exon 12 | c.1616_1617dup | 1749insTA | disease-causing |
Intron 12 | c.1679+694_2490+281dup | VUS | |
Exon 14 | c.2044dup | disease-causing | |
Exon 14 | c.2045dup | 2176insC | disease-causing |
Exon 14 | c.2052dup | 2184insA | disease-causing |
Exon 14 | c.2089dup | 2221insA | disease-causing |
Exon 14 | c.2175dup | 2307insA | disease-causing |
Exon 15 | c.2502dup | 2634insT | disease-causing |
Exon 15 | c.2601dup | 2732insA | disease-causing |
Exon 16 | c.2639_2640dup | disease-causing | |
Exon 17 | c.2810dup | 2942insT | disease-causing |
Exon 17 | c.2763_2764dup | 2896insAG | disease-causing |
Intron 19 | c.3139+187dup | VUS | |
Exon 20 | c.3263dup | disease-causing | |
Intron 20 | c.3368-2dup | likely pathogenic | |
Exon 20 | c.3184_3188dup | 3320ins5 | disease-causing |
Exon 22 | c.3492dup | K1165X | disease-causing |
Exon 22 | c.3532_3535dup | 3667ins4 | disease-causing |
Exon 23 | c.3767dup | 3898insC | disease-causing |
Exon 23 | c.3773dup | 3905insT | disease-causing |
Exon 24 | c.3889dup | 4016insT | disease-causing |
Exon 24 | c.3891dup | 4022insT | disease-causing |
Exon 25 | c.4086dup | 4218insT | disease-causing |
Exon 26 | c.4147dup | 4279insA | disease-causing |
Exon 27 | c.4303dup | disease-causing | |
Exon 27 | c.4374dup | VUS | |
Exon 27 | c.4300_4301dup | 4428insGA | disease-causing |